ライフサイエンスコーパス: myotonia

1 ), resulting in hyperexcitability of muscle (myotonia).

2 n to rescue the splicing defects and reverse myotonia.

3 vation defects, which are often observed for myotonia.

4 nsporter CIC-1, which has been implicated in myotonia.

5 argets for potential treatment of congenital myotonia.

6 myotonia congenita, and potassium-aggravated myotonia.

7 ology suggested a myopathic process, without myotonia.

8 ave been detected in some heritable forms of myotonia.

9 ional defect, results in either paralysis or myotonia.

10 hich enhances excitability and gives rise to myotonia.

11 dium channel blocker currently used to treat myotonia.

12 m channels might offer effective therapy for myotonia.

13 d in the patient with periodic paralysis and myotonia.

14 biting NaPIC is paralleled by elimination of myotonia.

15 r understanding of the mechanisms triggering myotonia.

16 o have a role, particularly when identifying myotonia.

17 explored mechanism in the pathophysiology of myotonia.

18 clinical symptoms such as muscle wasting and myotonia.

19 underscored by ClC-1 mutations in congenital myotonia.

20 ed by skeletal muscle wasting, weakness, and myotonia.

21 differentiating sodium from chloride channel myotonia.

22 llenge, dominant inheritance, and absence of myotonia.

23 cle weakness, progressive muscle wasting and myotonia.

24 including many changes that are secondary to myotonia.

25 channel 1 protein expression, and decreased myotonia.

26 onia congenita, and the potassium-aggravated myotonias.

27 is an effective therapy in the nondystrophic myotonias.

28 valuating its usefulness in the treatment of myotonias.

29 t evidence-based treatment for nondystrophic myotonias.

30 lity and fatigue, and the pathophysiology of myotonias.

31 for the study of mexiletine in nondystrophic myotonias.

32 gies of periodic paralysis and nondystrophic myotonias.

33 .0 versus 9.44), and paradoxical eye closure myotonia (50% versus 0%).

34 years versus 10 years), frequent eye closure myotonia (73.5% versus 25%), more impairment on the Indi

35 Certain forms of myotonia, a condition characterized by delayed relaxatio

36 lemic periodic paralysis (HyperKPP) produces myotonia and attacks of muscle weakness triggered by res

37 ther features of myotonic dystrophy, such as myotonia and cataracts.

38 These observations indicate that the myotonia and chloride channelopathy observed in DM both

39 ysplasia characterized by varying degrees of myotonia and chondrodysplasia, and patients with SJS sur

40 the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients.

41 hat expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpa

42 ation (c.1762A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 s

43 on mutations are a well-established cause of myotonia and periodic paralysis.

44 It has been suggested that a reversal of the myotonia and potentially other symptoms of the DM1 disea

45 Draggen mice have myotonia and suffer from intermittent hind-limb immobili

46 ardiac muscle, including periodic paralysis, myotonia and the long QT syndrome, provide clues about t

47 -kinesigenic dyskinesia, episodic ataxia and myotonia and we identified a novel PNKD gene deletion in

48 The myotonias and periodic paralyses are a diverse group of

49 Myotonias and periodic paralyses constitute a diverse gr

50 d with a spectrum of inherited nondystrophic myotonias and periodic paralyses.

51 le channelopathies, including non-dystrophic myotonias and periodic paralysis.

52 resence of eye closure myotonia, paradoxical myotonia, and an increase in short exercise test sensiti

53 itability, including epilepsy, chronic pain, myotonia, and cardiac arrhythmias.

54 ominant defect that produces muscle wasting, myotonia, and cardiac conduction abnormalities.

55 ked with epilepsy, ataxia, pain, arrhythmia, myotonia, and irritable bowel syndrome.

56 al dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement.

57 arly genetic forms of epilepsy, arrhythmias, myotonia, and periodic paralysis.

58 of the periodic paralyses, the nondystrophic myotonias, and other muscle channelopathies.

59 ns causing periodic paralysis, nondystrophic myotonias, and ryanodinopathies continues to grow with t

60 assessment; quantitative measure of handgrip myotonia; and Individualized Neuromuscular Quality of Li

61 fic neonatal presentations of sodium channel myotonia are now well documented.

62 myotonia congenita, and potassium-aggravated myotonia are three autosomal dominant skeletal muscle di

63 y and its relationship to the development of myotonia are uncertain.

64 Non-dystrophic myotonias are rare diseases caused by mutations in skele

65 s in pain, weakness, and tiredness; clinical myotonia assessment; quantitative measure of handgrip my

66 ing an unusual autosomal dominant congenital myotonia associated with debilitating pain especially se

67 acterized the functional consequences of two myotonia-associated mutations that lie at the cytoplasmi

68 zygous for this mutation exhibited prominent myotonia at rest and muscle fiber-type switching to a mo

69 suggests that the current focus of treating myotonia, blocking the transient Na(+) current underlyin

70 mutation was recently found in a family with myotonia but no weakness.

71 nd elevated serum divalent cations eliminate myotonia by inhibiting AfD and NaPIC.

72 er characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental

73 al features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, histopatholo

74 aracterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.

75 Becker syndrome, a recessive nondystrophic myotonia caused by mutations in the chloride channel 1 g

76 yotonic syndromes include the non-dystrophic myotonias, caused by mutations in genes encoding the chl

77 tally regulated alternative splicing events, myotonia, characteristic histological abnormalities, and

78 Myotonia congenita (MC) is the commonest genetic skeleta

79 t a novel mutation identified in a recessive myotonia congenita family.

80 Patients with myotonia congenita have muscle hyperexcitability due to

81 Patients with myotonia congenita have muscle hyperexcitability due to

82 Autosomal dominant myotonia congenita is an inherited disorder of skeletal

83 muscle velocity recovery cycles to evaluate myotonia congenita patients.

84 However, in vivo studies in a mouse model of myotonia congenita suggested that side effects could lim

85 el (cClC-1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3

86 100% specific for paramyotonia congenita and myotonia congenita, respectively.

87 le five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation

88 associated with the skeletal muscle disorder myotonia congenita.

89 ociated with the inherited muscular disorder myotonia congenita.

90 tic potential for treatment of patients with myotonia congenita.

91 re performed in muscle from a mouse model of myotonia congenita.

92 een linked to the hereditary muscle disorder myotonia congenita.

93 ring induction of warmup in a mouse model of myotonia congenita.

94 after rewarming was useful in patients with myotonia congenita.

95 tonia predicted sodium channel myotonia over myotonia congenita.

96 causing periodic paralysis and nondystrophic myotonias continues to increase.

97 are the cause of several diseases including myotonias, cystic fibrosis, and kidney stones.

98 ion of patients with clinical and electrical myotonia, despite considerable phenotypic overlap, the p

99 A patient with cold-aggravated myotonia did not harbour any of the common SCN4A mutatio

100 ss by pressure overload, or muscle stress by myotonia, did not unmask a requirement for DMPK.

101 changes cause skeletal muscle paralysis and myotonia, epilepsy, and cardiac arrhythmia.

102 for membrane excitability disorders, such as myotonia, epilepsy, or chronic pain.

103 sis, malignant hyperthermia, and generalized myotonia have in common?

104 ee-quarters of participants, with warm up of myotonia in 75% chloride channel mutations, but also 35.

105 ted the sensitivity of symptoms and signs of myotonia in a large cohort of patients.

106 adily explained on the basis of reduced gCl, myotonia in adult HSA(LR) animals may be explained on th

107 nt in the development of RNA missplicing and myotonia in DM and provide a rationale for therapeutic s

108 in D3 levels and reduced muscle weakness and myotonia in DM1 mice.

109 tine-induced sodium channel blockade reduced myotonia in small studies; however, as is common in rare

110 atment of arrhythmias, neuropathic pain, and myotonias in substitution of mexiletine (metabolite swit

111 ease-associated muscle hyperexcitability, or myotonia, in the HSA(LR) poly(CUG) mouse model for DM.

112 ociated with cases of periodic paralysis and myotonia, including the human cold-sensitive disorder pa

113 Myotonia is a condition characterized by impaired relaxa

114 tellation of features, collectively known as myotonia, is associated with abnormal alternative splici

115 ce important features of HyperKPP, including myotonia, K+-sensitive paralysis, and susceptibility to

116 l dysfunction with arrhythmia, epilepsy, and myotonia, little progress has been made toward understan

117 paramyotonia congenita, potassium-aggravated myotonia, long QT-3 syndrome, and neuropathic pain.

118 different as cardiac arrhythmias, epilepsy, myotonia, malignant hyperthermia, familial hyperinsulini

119 disorders which include: periodic paralysis, myotonias, malignant hyperthermia, and congenital myasth

120 reby cause both the enhanced excitability of myotonia (muscle stiffness due to repetitive discharges)

121 have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or bo

122 ed stiffness, bedside manoeuvres to evaluate myotonia, muscle specific quality of life instruments an

123 , gain-of-function mutations in egl-19 cause myotonia: mutant muscle action potentials are prolonged

124 Channelopathic myotonia mutations halve NaV1.4 Ca2+ regulation, and tra

125 rm MBNL1 overexpression prevents CUG-induced myotonia, myopathy and alternative splicing abnormalitie

126 stigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses.

127 Nondystrophic myotonias (NDMs) are rare diseases caused by mutations i

128 7 to -1.30; P < .001) and decreased handgrip myotonia on clinical examination (mexiletine, 0.164 seco

129 rders, with gain-of-function defects causing myotonia or hyperkalemic periodic paralysis.

130 l (hSkM1) have been identified as a cause of myotonia or periodic paralysis.

131 unction defects that cause susceptibility to myotonia or periodic paralysis.

132 the defects of fibre excitability underlying myotonia or periodic paralysis.

133 ye closure myotonia predicted sodium channel myotonia over myotonia congenita.

134 notypic overlap, the presence of eye closure myotonia, paradoxical myotonia, and an increase in short

135 muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital

136 eletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both.

137 r mechanism underlying the chondrodystrophic myotonia phenotype of SJS is unknown.

138 hort exercise tests, symptomatic eye closure myotonia predicted sodium channel myotonia over myotonia

139 ntaneous firing of muscle action potentials (myotonia), producing muscle stiffness.

140 oluntary firing of muscle action potentials (myotonia), producing muscle stiffness.

141 -untranslated region (UTR) of the dystrophia myotonia protein kinase (DMPK) gene.

142 xhibit remarkable clinical similarity to DM (myotonia, proximal and distal limb weakness, frontal bal

143 inite or clinically suspected non-dystrophic myotonia recruited from six sites in the USA, UK and Can

144 Myotonia reversal occurs concurrently with restoration o

145 We suggest the ideal myotonia therapy would selectively block NaPIC and spare

146 Myotonia was resistant to treatment; however, the most s

147 Handgrip myotonia was seen in three-quarters of participants, wit

148 at enhanced slow inactivation cannot prevent myotonia, whereas previous studies have shown that disru

149 AMPK activator, led to a strong reduction of myotonia, which was accompanied by partial correction of